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Hickey, Rachel
249
results:
Format
Online (249)
Mediatypes
Articles (Online) (115)
Bookchapter (Online) (3)
OpenAccess-fulltext (131)
Sorted by: Relevance
Sorted by: Year
?
1
Treatment-naive and post-treatment glucosylsphingosine (lys..:
Rasmussen, Carly A.
;
Quadri, Allegra
;
Vucko, Erika
...
Molecular Genetics and Metabolism. 141 (2024) 1 - p. 107736 , 2024
Link:
https://doi.org/10.1016/..
?
2
P454: Investigating the efficacy of targeted NGS panels wit..:
Drackley, Andy
;
Rathbun, Pamela
;
Ing, Alexander
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100501 , 2023
Link:
https://doi.org/10.1016/..
?
3
P400: Implementation of genetic inpatient consultation serv..:
Peter, Merlene
;
Hickey, Rachel
;
Moran, Miguel
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100436 , 2023
Link:
https://doi.org/10.1016/..
?
4
FURTHER EXPANSION AND CLINICAL CHARACTERIZATION OF THE PROG..:
Hickey, Rachel
;
Pronman-Thompson, Lauren
;
Baker, Joshua
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107420 , 2023
Link:
https://doi.org/10.1016/..
?
5
NEWBORN SCREENING FOR ACID SPHINGOMYELINASE DEFICIENCY IN I..:
Baker, Joshua
;
Hickey, Rachel
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107387 , 2023
Link:
https://doi.org/10.1016/..
?
6
Working Relationally to Bridge the Divide: An Exploration o..:
, In:
School-University Partnerships—Innovation in Initial Teacher Education
,
Nash, Melanie
;
Byth, Allison
;
Whewell, David
.. - p. 7-25 , 2022
Link:
https://doi.org/10.1007/..
?
7
eP143: Newborn screening for X-linked adrenoleukodystrophy:..:
Hickey, Rachel
;
Burton, Barbara
;
Whitehead, J.
.
Genetics in Medicine. 24 (2022) 3 - p. S88-S89 , 2022
Link:
https://doi.org/10.1016/..
?
8
Newborn Screening for X-Linked Adrenoleukodystrophy: The In..:
Burton, Barbara K.
;
Hickey, Rachel
;
Hitchins, Lauren
...
International Journal of Neonatal Screening. 8 (2022) 1 - p. 6 , 2022
Link:
https://doi.org/10.3390/..
?
9
Comparison of psychosine analysis in dried blood spots and ..:
White, Amy
;
Guenzel, Adam
;
Turgeon, Coleman
...
Molecular Genetics and Metabolism. 132 (2021) - p. S29-S30 , 2021
Link:
https://doi.org/10.1016/..
?
10
Complexities in interpretation and management of rare disea..:
Morrison, Kevin
;
Baker, Joshua
;
Hickey, Rachel
Molecular Genetics and Metabolism. 132 (2021) - p. S82 , 2021
Link:
https://doi.org/10.1016/..
?
11
Newborn screening for mucopolysaccharidosis type II: a sing..:
Quadri, Allegra
;
Kim, Katherine
;
Hickey, Rachel
...
Molecular Genetics and Metabolism. 132 (2021) - p. S340-S341 , 2021
Link:
https://doi.org/10.1016/..
?
12
Chart review of the management of late-onset Pompe patients..:
Horgan, Sinead
;
Charrow, Joel
;
Jayaraman, Susheela
..
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S74 , 2020
Link:
https://doi.org/10.1016/..
?
13
Newborn Screening for Mucopolysaccharidosis Type II in Illi..:
Burton, Barbara K.
;
Hickey, Rachel
;
Hitchins, Lauren
International Journal of Neonatal Screening. 6 (2020) 3 - p. 73 , 2020
Link:
https://doi.org/10.3390/..
?
14
Newborn Screening for Pompe Disease in Illinois: Experience..:
Burton, Barbara K.
;
Charrow, Joel
;
Hoganson, George E.
...
International Journal of Neonatal Screening. 6 (2020) 1 - p. 4 , 2020
Link:
https://doi.org/10.3390/..
?
15
Fabry disease A143T genotype-phenotype investigation:
Jayaraman, Susheela
;
Charrow, Joel
;
Frauenheim, Jill
..
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S80 , 2019
Link:
https://doi.org/10.1016/..
1-15